Variant report

Variant	rs6569720
Chromosome Location	chr6:131380916-131380917
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131380112..131382721-chr6:131384592..131387517,3	K562	blood:
2	chr6:131217137..131218661-chr6:131380845..131382690,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12661081	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs13193246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1332490	0.89[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1332491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1338905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17059896	0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs17059925	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1855077	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1888959	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs1976982	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2007339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2151069	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2225557	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2275063	0.93[JPT][hapmap]
rs3777450	0.93[JPT][hapmap]
rs3777453	0.86[CHB][hapmap];0.93[JPT][hapmap]
rs3777463	0.88[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs3822864	0.93[JPT][hapmap]
rs4895902	0.89[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4897480	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4897481	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4897482	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4897488	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4897490	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6569716	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6569718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6569722	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6569725	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6900810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6908917	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6909134	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6928986	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6942081	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73623428	0.90[ASN][1000 genomes]
rs73774328	0.86[ASN][1000 genomes]
rs7742376	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7747881	0.88[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs7765007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7765757	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7769153	0.88[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs9321268	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9372988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9689026	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131373400-131381400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:131375800-131382400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:131376000-131382600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:131376400-131381800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:131377000-131381800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:131377200-131381600	Weak transcription	Fetal Intestine Small	intestine
7	chr6:131377200-131382600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:131377200-131382600	Weak transcription	Primary T cells from cord blood	blood
9	chr6:131377400-131382400	Weak transcription	Fetal Intestine Large	intestine
10	chr6:131377400-131382600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:131377400-131382600	Weak transcription	Aorta	Aorta
12	chr6:131378200-131382200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:131378600-131381000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:131378600-131381600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:131378600-131382400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:131378800-131381200	Weak transcription	Primary B cells from cord blood	blood
17	chr6:131379600-131381000	Weak transcription	HMEC	breast
18	chr6:131380000-131381000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:131380200-131381600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:131380600-131381000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr6:131380600-131381000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr6:131380600-131381000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:131380600-131381000	Enhancers	Brain Substantia Nigra	brain
24	chr6:131380600-131381200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:131380600-131381200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:131380600-131381200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:131380600-131381200	Enhancers	Fetal Stomach	stomach
28	chr6:131380600-131381200	Flanking Active TSS	Osteobl	bone
29	chr6:131380600-131381400	Enhancers	Brain Anterior Caudate	brain
30	chr6:131380600-131381400	Enhancers	Rectal Smooth Muscle	rectum
31	chr6:131380600-131381400	Active TSS	GM12878-XiMat	blood
32	chr6:131380600-131381600	Enhancers	Brain Angular Gyrus	brain
33	chr6:131380600-131381600	Enhancers	Brain Hippocampus Middle	brain
34	chr6:131380600-131381600	Enhancers	HepG2	liver
35	chr6:131380600-131381800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr6:131380600-131381800	Enhancers	Adipose Nuclei	Adipose
37	chr6:131380600-131381800	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr6:131380600-131382000	Flanking Active TSS	A549	lung
39	chr6:131380600-131382200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr6:131380600-131382200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:131380600-131382200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:131380600-131382200	Enhancers	NH-A	brain
43	chr6:131380600-131382400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr6:131380800-131381000	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr6:131380800-131381000	Enhancers	Small Intestine	intestine
46	chr6:131380800-131381200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:131380800-131381400	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr6:131380800-131381400	Enhancers	NHLF	lung
49	chr6:131380800-131381600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:131380800-131381600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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